Microarray expression profile analysis of long non-coding RNAs in optineurin E50K mutant transgenic mice.

The biological role of long non-coding RNAs (lncRNAs) involves various cellular processes and leads to human diseases. Mutations in the optineurin (OPTN) gene, including E50K, which encodes an amino acid substitution, have been associated with primary open angle glaucoma (POAG). The present study was designed to identify lncRNAs associated with OPTN (E50K) transgenic mice and investigate its functions in the pathogenesis of POAG. The retinas from six OPTN (E50K) transgenic and wild-type mice were collected separately, and lncRNA expression profiling was performed using microarray analysis. Based on Pearson's correlation analysis, an lncRNA and mRNA co‑expression network was constructed. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes enrichment analysis of the lncRNAs and coexpressed mRNAs was used to identify the associated biological modules and pathological pathways. The GO biological processes (BPs) of the differentially expressed lncRNAs were predicted using a computational method of gene set enrichment analysis. A total of 69 lncRNAs showed differential expression between the OPTN (E50K) transgenic mice and wild‑type mice, which included 37 downregulated and 32 upregulated lncRNAs. The pathway analysis revealed that the lncRNAs coexpressed with mRNAs were enriched in mRNA surveillance and RNA transport pathways. In addition, eight lncRNAs were annotated in the GO BPs, and two of these eight lncRNAs, ASMM10P055228 and ASMM10P040128, were annotated with the negative regulation of oxidative stress-induced cell death and regulation of execution phase of apoptosis. These results showed that lncRNAs were differentially expressed in the retinas between OPTN (E50K) transgenic and wild‑type mice, and this may be important in the pathogenesis of POAG caused by the OPTN (E50K) mutation.